cDNA level identifier (n.a.):
c.1037+5G>C
Gene level identifier:
g.55569G>C
Archive identifier/Other designation:
IVS7+5G>C
Reference, alternative allele:
C, G
Genomic location hg(19)
Gene name:
Consequence:
splice region 4 20bp
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).